Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11203289
rs11203289
SDHB
0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs11203289
rs11203289
SDHB
0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.010 1.000 1 2012 2012
dbSNP: rs11203289
rs11203289
SDHB
0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1131691061
rs1131691061
SDHB
0.827 0.280 1 17054017 start lost C/T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1131691061
rs1131691061
SDHB
0.827 0.280 1 17054017 start lost C/T snv
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.010 1.000 1 2015 2015
dbSNP: rs1131691061
rs1131691061
SDHB
0.827 0.280 1 17054017 start lost C/T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1131691061
rs1131691061
SDHB
0.827 0.280 1 17054017 start lost C/T snv
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.010 1.000 1 2012 2012
dbSNP: rs1396860069
rs1396860069
SDHB
1.000 0.040 1 17027831 missense variant A/G snv 7.0E-06
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		0.010 1.000 1 2008 2008
dbSNP: rs202101384
rs202101384
SDHB
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.010 1.000 1 2012 2012
dbSNP: rs202101384
rs202101384
SDHB
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		0.010 1.000 1 2012 2012
dbSNP: rs202101384
rs202101384
SDHB
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2012 2012
dbSNP: rs33927012
rs33927012
SDHB
1.000 0.080 1 17027802 missense variant A/G snv 1.2E-02 9.3E-03
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.010 1.000 1 2005 2005
dbSNP: rs397516835
rs397516835
SDHB
0.925 0.080 1 17024040 missense variant C/G;T snv
CUI: C0017653
Disease: Glomus Tumor
Glomus Tumor 		0.010 1.000 1 2009 2009
dbSNP: rs74315369
rs74315369
SDHB
0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs772551056
rs772551056
SDHB
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm 		0.010 1.000 1 2008 2008
dbSNP: rs772551056
rs772551056
SDHB
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2008 2008
dbSNP: rs772551056
rs772551056
SDHB
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2008 2008
dbSNP: rs786203251
rs786203251
SDHB
0.882 0.080 1 17022649 missense variant G/A;T snv
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		0.010 1.000 1 2006 2006
dbSNP: rs876658461
rs876658461
SDHB
0.827 0.200 1 17023975 stop gained G/A snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2009 2009
dbSNP: rs876658461
rs876658461
SDHB
0.827 0.200 1 17023975 stop gained G/A snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2009 2009